ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)

dbSNP: rs1555534918
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660097 SCV000782078 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000660097 SCV001581195 pathogenic Neurofibromatosis, type 1 2020-06-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys2202*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 31370276, 23913538). ClinVar contains an entry for this variant (Variation ID: 547678). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics RCV001662722 SCV001879401 pathogenic not provided 2021-03-11 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene.
Genome-Nilou Lab RCV000660097 SCV002560197 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001662722 SCV004222177 pathogenic not provided 2021-03-11 criteria provided, single submitter clinical testing The NF1 c.6606C>A (p.Cys2202*) nonsense variant causes the premature termination of NF1 protein synthesis. It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with NF1 (PMID: 23913538 (2013)) or clinical features associated with NF1 (PMID: 31370276 (2019)). Based on the available information, this variant is classified as pathogenic.

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